Genome sequencing in persistently unsolved white matter disorders.
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ABSTRACT:
SUBMITTER: Helman G
PROVIDER: S-EPMC6952322 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Publications
Genome sequencing in persistently unsolved white matter disorders.
Helman Guy G Lajoie Bryan R BR Crawford Joanna J Takanohashi Asako A Walkiewicz Marzena M Dolzhenko Egor E Gross Andrew M AM Gainullin Vladimir G VG Bent Stephen J SJ Jenkinson Emma M EM Ferdinandusse Sacha S Waterham Hans R HR Dorboz Imen I Bertini Enrico E Miyake Noriko N Wolf Nicole I NI Abbink Truus E M TEM Kirwin Susan M SM Tan Christina M CM Hobson Grace M GM Guo Long L Ikegawa Shiro S Pizzino Amy A Schmidt Johanna L JL Bernard Genevieve G Schiffmann Raphael R van der Knaap Marjo S MS Simons Cas C Taft Ryan J RJ Vanderver Adeline A
Annals of clinical and translational neurology 20200107 1
Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 from an historical cohort (n = 191). Reanalysis in the context of novel disease-associated genes and improved variant curation and annotation resolved 64% of cases. The remaining diagnoses were directly attributable to genome sequencing, including cases ...[more]
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